ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) (rs137852948)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623522 SCV000743048 uncertain significance Inborn genetic diseases 2017-11-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Counsyl RCV000004329 SCV000800507 uncertain significance Autosomal recessive polycystic kidney disease 2017-03-16 criteria provided, single submitter clinical testing
Invitae RCV000004329 SCV001414655 pathogenic Autosomal recessive polycystic kidney disease 2019-05-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 3553 of the PKHD1 protein (p.Ile3553Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with polycystic kidney disease (PKD) in a family and has also been observed in several individuals affected with PKD (PMID: 11919560, 29956005). ClinVar contains an entry for this variant (Variation ID: 4113). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004329 SCV000024500 pathogenic Autosomal recessive polycystic kidney disease 2002-03-01 no assertion criteria provided literature only

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